中华皮肤科杂志 ›› 2018, Vol. 51 ›› Issue (8): 597-598.doi: 10.3760/cma.j.issn.0412-4030.2018.08.009

• 研究报道 • 上一篇    下一篇

一个遗传性对称性色素异常症家系ADAR1基因突变分析

陈源昊琪1,焦亚宁2,杨彪3,董辉4,吴昊5,喻楠3,葛新红3   

  1. 1. 宁夏医科大学
    2. 银川 宁夏医科大学总医院皮肤科
    3. 宁夏医科大学总医院皮肤科
    4. 宁夏医科大学总医院
    5. 宁夏医科大学总院
  • 收稿日期:2017-08-22 修回日期:2018-03-20 出版日期:2018-08-15 发布日期:2018-07-31
  • 通讯作者: 葛新红 E-mail:gexinhong.0101@163.com
  • 基金资助:
    宁夏自然科学基金

Mutation analysis of the ADAR1 gene in a pedigree with dyschromatosis symmetrica hereditaria

Chen Yuanhaoqi, Jiao Yaning, Yang Biao, Dong Hui, Wu Hao, Yu Nan, Ge Xinhong   

  1. School of Clinical Medicine, Ningxia Medical University, Yinchuan 750004, China (Chen YHQ); Department of Dermatology, General Hospital of Ningxia Medical University, Yinchuan 750004, China (Jiao YN, Yang B, Dong H, Yu N, Ge XH); Du Jiang Yan Medical Center, Dujiangyan 611830, Sichuan, China (Wu H)
  • Received:2017-08-22 Revised:2018-03-20 Online:2018-08-15 Published:2018-07-31
  • Contact: Ge Xinhong E-mail:gexinhong.0101@163.com
  • Supported by:
    Ningxia Natural Science Foundation

摘要: 目的 检测1个遗传性对称性色素异常症家系中ADAR1基因的突变位点。方法 提取一遗传性对称性色素异常症家系成员(5例患者,3例非患者)和100例无血缘关系的健康对照外周血标本,PCR扩增ADAR1基因全部15个外显子序列并测序,参考Genebank中ADAR1基因标准序列对比分析突变位点。结果 该家系5例患者ADAR1基因2号外显子第1 420位碱基C突变为T,为无义突变,即C.1420C > T(p.Arg474X),家系其他健康成员和100例无关健康人中未发现此突变。结论 该遗传性对称性色素异常症家系的致病突变为ADAR1基因C.1420C > T无义突变。

关键词: 密码子, 无义, 基因, ADAR1, 遗传性对称性色素异常症

Abstract: Chen Yuanhaoqi, Jiao Yaning, Yang Biao, Dong Hui, Wu Hao, Yu Nan, Ge Xinhong School of Clinical Medicine, Ningxia Medical University, Yinchuan 750004, China (Chen YHQ); Department of Dermatology, General Hospital of Ningxia Medical University, Yinchuan 750004, China (Jiao YN, Yang B, Dong H, Yu N, Ge XH); Du Jiang Yan Medical Center, Dujiangyan 611830, Sichuan, China (Wu H) Corresponding author: Ge Xinhong, Email: gexinhong.0101@163.com 【Abstract】 Objective To detect mutations in the ARAD1 gene in a pedigree with dyschromatosis symmetrica hereditaria (DSH). Methods Genomic DNA was extracted from the peripheral blood of 8 family members (including 5 patients with DSH and 3 unaffected members) in the pedigree with DSH, as well as 100 unrelated healthy controls. All the 15 exon sequences of the ADAR1 gene were amplified by polymerase chain reaction(PCR)followed by direct sequencing. Then, mutations were detected in comparison with the standard sequence of the ADAR1 gene in Genebank. Results A nonsense mutation C.1420C > T (p.Arg474X) was identified at position 1 420 in exon 2 of the ADAR1 gene in the 5 patients with DSH, but not in the 3 unaffected members or 100 unrelated healthy controls. Conclusion The nonsense mutation C.1420C > T in the ADAR1 gene is the causative mutation in the pedigree with DSH.

Key words: Codon, nonsense, Gene, ADAR1, Dyschromatosis symmetrica hereditaria